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Article

24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy

Mazzone, E. S., Pane, M., Sormani, M. P., Scalise, R., Berardinelli, A., Messina, S., Torrente, Y., D'Amico, A., Doglio, L., Viggiano, E., D'Ambrosio, P., Cavallaro, F., Frosini, S., Bello, L., Bonfiglio, S., de Sanctis, R., Rolle, E., Bianco, F., Magri, F., Rossi, F. & 16 others, Vasco, G., Vita, G. L., Motta, M. C., Donati, M. A., Sacchini, M., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Previtali, S., Napolitano, S., Bruno, C., Politano, L., Comi, G. P., Bertini, E. & Mercuri, E., Jan 17 2013, In : PLoS One. 8, 1, e52512.

Research output: Contribution to journalArticle

6 minute walk test in Duchenne MD patients with different mutations: 12 month changes

Pane, M., Mazzone, E. S., Sormani, M. P., Messina, S., Vita, G. L., Fanelli, L., Berardinelli, A., Torrente, Y., D'Amico, A., Lanzillotta, V., Viggiano, E., D'Ambrosio, P., Cavallaro, F., Frosini, S., Bello, L., Bonfiglio, S., Scalise, R., De Sanctis, R., Rolle, E., Bianco, F. & 24 others, Van Der Haawue, M., Magri, F., Palermo, C., Rossi, F., Donati, M. A., Alfonsi, C., Sacchini, M., Arnoldi, M. T., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Previtali, S. C., Napolitano, S., Bruno, C., Politano, L., Comi, G. P., Bertini, E., Morandi, L., Gualandi, F., Ferlini, A., Goemans, N. & Mercuri, E., Jan 8 2014, In : PLoS One. 9, 1, e83400.

Research output: Contribution to journalArticle

Acute quadriplegic myopathy in a 16-month-old child

Iodice, F., Salzano, M., Prosperi, M., D'Amico, A., Lauri, A. & Bertini, E., 2005, In : Paediatric Anaesthesia. 15, 7, p. 611-615 5 p.

Research output: Contribution to journalArticle

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

Fanin, M., Anichini, A., Cassandrini, D., Fiorillo, C., Scapolan, S., Minetti, C., Cassanello, M., Donati, M. A., Siciliano, G., D'Amico, A., Lilliu, F., Bruno, C. & Angelini, C., Sep 2012, In : Clinical Genetics. 82, 3, p. 232-239 8 p.

Research output: Contribution to journalArticle

A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features

Di Rosa, G., Messina, S., D'Amico, A., Bertini, E., Pustorino, G., Spanò, M. & Tortorella, G., Sep 2011, In : Epileptic Disorders. 13, 3, p. 259-262 4 p.

Research output: Contribution to journalArticle

An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene

Broccolini, A., Pescatori, M., D'Amico, A., Sabino, A., Silvestri, G., Ricci, E., Servidei, S., Tonali, P. A. & Mirabella, M., Dec 10 2002, In : Neurology. 59, 11, p. 1808-1809 2 p.

Research output: Contribution to journalArticle

An observational study of functional abilities in infants, children, and adults with type 1 SMA

Italian EAP working Group, Aug 21 2018, In : Neurology. 91, 8, p. e696-e703 8 p.

Research output: Contribution to journalArticle

A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review

Bottillo, I., Giordano, C., Cerbelli, B., D'Angelantonio, D., Lipari, M., Polidori, T., Majore, S., Bertini, E., D'Amico, A., Giannarelli, D., De Bernardo, C., Masuelli, L., Musumeci, F., Avella, A., Re, F., Zachara, E., d'Amati, G. & Grammatico, P., Sep 1 2016, In : Cardiovascular Pathology. 25, 5, p. 423-431 9 p.

Research output: Contribution to journalArticle

Apoptotic features accompany acute quadriplegic myopathy

Di Giovanni, S., Mirabella, M., D'Amico, A., Tonali, P. & Servidei, S., Sep 26 2000, In : Neurology. 55, 6, p. 854-858 5 p.

Research output: Contribution to journalArticle

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Patel, V. L., Busch, E. L., Friebel, T. M., Cronin, A., Leslie, G., McGuffog, L., Adlard, J., Agata, S., Agnarsson, B. A., Ahmed, M., Aittomäki, K., Alducci, E., Andrulis, I. L., Arason, A., Arnold, N., Artioli, G., Arver, B., Auber, B., Azzollini, J., Balmaña, J. & 243 others, Barkardottir, R. B., Barnes, D. R., Barroso, A., Barrowdale, D., Belotti, M., Benitez, J., Bertelsen, B., Blok, M. J., Bodrogi, I., Bonadona, V., Bonanni, B., Bondavalli, D., Boonen, S. E., Borde, J., Borg, A., Bradbury, A. R., Brady, A., Brewer, C., Brunet, J., Buecher, B., Buys, S. S., Cabezas-Camarero, S., Caldés, T., Caliebe, A., Caligo, M. A., Calvello, M., Campbell, I. G., Carnevali, I., Carrasco, E., Chan, T. L., Chu, A. T. W., Chung, W. K., Claes, K. B. M., Collaborators, G. S., Collaborators, E., Cook, J., Cortesi, L., Couch, F. J., Daly, M. B., Damante, G., Darder, E., Davidson, R., de la Hoya, M., Puppa, L. D., Dennis, J., Díez, O., Ding, Y. C., Ditsch, N., Domchek, S. M., Donaldson, A., Dworniczak, B., Easton, D. F., Eccles, D. M., Eeles, R. A., Ehrencrona, H., Ejlertsen, B., Engel, C., Evans, D. G., Faivre, L., Faust, U., Feliubadaló, L., Foretova, L., Fostira, F., Fountzilas, G., Frost, D., García-Barberán, V., Garre, P., Gauthier-Villars, M., Géczi, L., Gehrig, A., Gerdes, A-M., Gesta, P., Giannini, G., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gutierrez-Barrera, A. M., Hahnen, E., Hamann, U., Hauke, J., Herold, N., Hogervorst, F. B. L., Honisch, E., Hopper, J. L., Hulick, P. J., Investigators, K., Investigators, H., Izatt, L., Jager, A., James, P., Janavicius, R., Jensen, U. B., Jensen, T. D., Johannsson, O. T., John, E. M., Joseph, V., Kang, E., Kast, K., Kiiski, J. I., Kim, S-W., Kim, Z., Ko, K-P., Konstantopoulou, I., Kramer, G., Krogh, L., Kruse, T. A., Kwong, A., Larsen, M., Lasset, C., Lautrup, C., Lazaro, C., Lee, J., Lee, J. W., Lee, M. H., Lemke, J., Lesueur, F., Liljegren, A., Lindblom, A., Llovet, P., Lopez-Fernández, A., Lopez-Perolio, I., Lorca, V., Loud, J. T., Ma, E. S. K., Mai, P. L., Manoukian, S., Mari, V., Martin, L., Matricardi, L., Mebirouk, N., Medici, V., Meijers-Heijboer, H. E. J., Meindl, A., Mensenkamp, A. R., Miller, C., Gomes, D. M., Montagna, M., Mooij, T. M., Moserle, L., Mouret-Fourme, E., Mulligan, A. M., Nathanson, K. L., Navratilova, M., Nevanlinna, H., Niederacher, D., Nielsen, F. C. C., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Ong, K-R., Osorio, A., Ott, C-E., Palli, D., Park, S. K., Parsons, M. T., Pedersen, I. S., Peissel, B., Peixoto, A., Pérez-Segura, P., Peterlongo, P., Petersen, A. H., Porteous, M. E., Pujana, M. A., Radice, P., Ramser, J., Rantala, J., Rashid, M. U., Rhiem, K., Rizzolo, P., Robson, M. E., Rookus, M. A., Rossing, C. M., Ruddy, K. J., Santos, C., Saule, C., Scarpitta, R., Schmutzler, R. K., Schuster, H., Senter, L., Seynaeve, C. M., Shah, P. D., Sharma, P., Shin, V. Y., Silvestri, V., Simard, J., Singer, C. F., Skytte, A-B., Snape, K., Solano, A. R., Soucy, P., Southey, M. C., Spurdle, A. B., Steele, L., Steinemann, D., Stoppa-Lyonnet, D., Stradella, A., Sunde, L., Sutter, C., Tan, Y. Y., Teixeira, M. R., Teo, S. H., Thomassen, M., Tibiletti, M. G., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tommasi, S., Torres, D., Toss, A., Trainer, A. H., Tung, N., van Asperen, C. J., van der Baan, F. H., van der Kolk, L. E., van der Luijt, R. B., van Hest, L. P., Varesco, L., Varon-Mateeva, R., Viel, A., Vierstrate, J., Villa, R., von Wachenfeldt, A., Wagner, P., Wang-Gohrke, S., Wappenschmidt, B., Weitzel, J. N., Wieme, G., Yadav, S., Yannoukakos, D., Yoon, S-Y., Zanzottera, C., Zorn, K. K., D'Amico, A. V., Freedman, M. L., Pomerantz, M. M., Chenevix-Trench, G., Antoniou, A. C., Neuhausen, S. L., Ottini, L., Nielsen, H. R. & Rebbeck, T. R., Feb 1 2020, In : Cancer Research. 80, 3, p. 624-638 15 p.

Research output: Contribution to journalArticle

Attention deficit hyperactivity disorder and cognitive function in duchenne muscular dystrophy: Phenotype-genotype correlation

Pane, M., Lombardo, M. E., Alfieri, P., D'Amico, A., Bianco, F., Vasco, G., Piccini, G., Mallardi, M., Romeo, D. M., Ricotti, V., Ferlini, A., Gualandi, F., Vicari, S., Bertini, E., Berardinelli, A. & Mercuri, E., Oct 2012, In : Journal of Pediatrics. 161, 4

Research output: Contribution to journalArticle

Autophagy regulates satellite cell ability to regenerate normal and dystrophic muscles

Fiacco, E., Castagnetti, F., Bianconi, V., Madaro, L., de Bardi, M., Nazio, F., D'Amico, A., Bertini, E., Cecconi, F., Puri, P. L. & Latella, L., Jul 22 2016, (Accepted/In press) In : Cell Death and Differentiation.

Research output: Contribution to journalArticle

Autophagy regulates satellite cell ability to regenerate normal and dystrophic muscles

Fiacco, E., Castagnetti, F., Bianconi, V., Madaro, L., De Bardi, M., Nazio, F., D'Amico, A., Bertini, E. S., Cecconi, F., Puri, P. L. & Latella, L., Jul 22 2016, (Accepted/In press) In : Cell Death and Differentiation.

Research output: Contribution to journalArticle

Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test

Pane, M., Fanelli, L., Mazzone, E. S., Olivieri, G., D'Amico, A., Messina, S., Scutifero, M., Battini, R., Petillo, R., Frosini, S., Sivo, S., Vita, G. L., Bruno, C., Mongini, T., Pegoraro, E., De Sanctis, R., Gardani, A., Berardinelli, A., Lanzillotta, V., Carlesi, A. & 18 others, Viggiano, E., Cavallaro, F., Sframeli, M., Bello, L., Barp, A., Bianco, F., Bonfiglio, S., Rolle, E., Palermo, C., D'Angelo, G., Pini, A., Iotti, E., Gorni, K., Baranello, G., Bertini, E., Politano, L., Sormani, M. P. & Mercuri, E., Oct 1 2015, In : Neuromuscular Disorders. 25, 10, p. 749-753 5 p.

Research output: Contribution to journalArticle

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: A clinical, biochemical and genetic study

Ciccolella, M., Catteruccia, M., Benedetti, S., Moroni, I., Uziel, G., Pantaleoni, C., Chiapparini, L., Bizzi, A., D'Amico, A., Fattori, F., Salsano, M. L., Pastore, A., Tozzi, G., Piemonte, F. & Bertini, E., Dec 2012, In : Neuromuscular Disorders. 22, 12, p. 1075-1082 8 p.

Research output: Contribution to journalArticle

Burden, professional support, and social network in families of children and young adults with muscular dystrophies

Magliano, L., Patalano, M., Sagliocchi, A., Scutifero, M., Zaccaro, A., D'angelo, M. G., Civati, F., Brighina, E., Vita, G., Vita, G. L., Messina, S., Sframeli, M., Pane, M., Lombardo, M. E., Scalise, R., D'amico, A., Colia, G., Catteruccia, M., Balottin, U., Berardinelli, A. & 8 others, Chiara Motta, M., Angelini, C., Gaiani, A., Semplicini, C., Bello, L., Battini, R., Astrea, G. & Politano, L., Jul 1 2015, In : Muscle and Nerve. 52, 1, p. 13-21 9 p.

Research output: Contribution to journalArticle

Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy

Italian Network for Laminopathies (NIL), Peretto, G., Di Resta, C., Perversi, J., Forleo, C., Maggi, L., Politano, L., Barison, A., Previtali, S. C., Carboni, N., Brun, F., Pegoraro, E., D'Amico, A., Rodolico, C., Magri, F., Manzi, R. C., Palladino, A., Isola, F., Gigli, L., Mongini, T. E. & 21 others, Semplicini, C., Calore, C., Ricci, G., Comi, G. P., Ruggiero, L., Bertini, E., Bonomo, P., Nigro, G., Resta, N., Emdin, M., Favale, S., Siciliano, G., Santoro, L., Sinagra, G., Limongelli, G., Ambrosi, A., Ferrari, M., Golzio, P. G., Bella, P. D., Benedetti, S. & Sala, S., 2019, In : Annals of Internal Medicine. 171, 7, p. 458-463 6 p.

Research output: Contribution to journalArticle

Cardiac and Neuromuscular Features of Patients with LMNA-Related Cardiomyopathy

Italian Network for Laminopathies (NIL), Sep 3 2019, In : Annals of Internal Medicine.

Research output: Contribution to journalArticle

Cardiac function in types II and III spinal muscular atrophy: Should we change standards of care?

Bianco, F., Pane, M., D'Amico, A., Messina, S., Delogu, A. B., Soraru, G., Pera, M. C., Mongini, T., Politano, L., Baranello, G., Vita, G., Tiziano, F. D., Morandi, L., Bertini, E. & Mercuri, E., Feb 1 2015, In : Neuropediatrics. 46, 1, p. 33-36 4 p.

Research output: Contribution to journalArticle

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy

Bello, L., Melacini, P., Pezzani, R., D'Amico, A., Piva, L., Leonardi, E., Torella, A., Soraru, G., Palmieri, A., Smaniotto, G., Gavassini, B. F., Vianello, A., Nigro, V., Bertini, E., Angelini, C., Tosatto, S. C. E. & Pegoraro, E., Dec 2012, In : European Journal of Human Genetics. 20, 12, p. 1234-1239 6 p.

Research output: Contribution to journalArticle

Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy

Mercuri, E., Signorovitch, J. E., Swallow, E., Song, J., Ward, S. J., Pane, M., Mazzone, E. S., Messina, S., Vita, G., Sormani, M. P., D'Amico, A., Berardinelli, A., Magri, F., Comi, G. P., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Bruno, C. & 9 others, Politano, L., Previtali, S., Binks, M. H., Campion, G., Charnas, L., Kaye, E., Kelly, M., Morris, C. & Reha, A., Sep 1 2016, In : Neuromuscular Disorders. 26, 9, p. 576-583 8 p.

Research output: Contribution to journalArticle

Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy

Mercuri, E., Signorovitch, J. E., Swallow, E., Song, J., Ward, S. J., Pane, M., Mazzone, E. S., Messina, S., Vita, G., Sormani, M. P., D'Amico, A., Berardinelli, A., Magri, F., Comi, G. P., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Bruno, C. & 9 others, Politano, L., Previtali, S., Binks, M. H., Campion, G., Charnas, L., Kaye, E., Kelly, M., Morris, C. & Reha, A., Sep 1 2016, In : Neuromuscular Disorders. 26, 9, p. 576-583 8 p.

Research output: Contribution to journalArticle

Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy

Mercuri, E., Signorovitch, J. E., Swallow, E., Song, J., Ward, S. J., Pane, M., Mazzone, E., Messina, S., Vita, G. L., Sormani, M. P., D'Amico, A., Berardinelli, A., Magri, F., Comi, G. P., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Bruno, C. & 9 others, Politano, L., Previtali, S., Binks, M. H., Campion, G., Charnas, L., Kaye, E., Kelly, M., Morris, C. & Reha, A., Sep 1 2016, In : Neuromuscular Disorders. 26, 9, p. 576-583 8 p.

Research output: Contribution to journalArticle

Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy

Mercuri, E., Signorovitch, J. E., Swallow, E., Song, J., Ward, S. J., Pane, M., Mazzone, E. S., Messina, S., Vita, G., Sormani, M. P., D'Amico, A., Berardinelli, A., Magri, F., Comi, G. P., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Bruno, C. & 9 others, Politano, L., Previtali, S., Binks, M. H., Campion, G., Charnas, L., Kaye, E., Kelly, M., Morris, C. & Reha, A., Sep 1 2016, In : Neuromuscular Disorders. 26, 9, p. 576-583 8 p.

Research output: Contribution to journalArticle

Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort

Fattori, F., Maggi, L., Bruno, C., Cassandrini, D., Codemo, V., Catteruccia, M., Tasca, G., Berardinelli, A., Magri, F., Pane, M., Rubegni, A., Santoro, L., Ruggiero, L., Fiorini, P., Pini, A., Mongini, T., Messina, S., Brisca, G., Colombo, I., Astrea, G. & 17 others, Fiorillo, C., Bragato, C., Moroni, I., Pegoraro, E., D’Apice, M. R., Alfei, E., Mora, M., Morandi, L., Donati, A., Evilä, A., Vihola, A., Udd, B., Bernansconi, P., Mercuri, E., Santorelli, F. M., Bertini, E. & D’Amico, A., May 10 2015, In : Journal of Neurology. 262, 7, p. 1728-1740 13 p.

Research output: Contribution to journalArticle

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.

Catteruccia, M., Fattori, F., Codemo, V., Ruggiero, L., Maggi, L., Tasca, G., Fiorillo, C., Pane, M., Berardinelli, A., Verardo, M., Bragato, C., Mora, M., Morandi, L., Bruno, C., Santoro, L., Pegoraro, E., Mercuri, E., Bertini, E. & D'Amico, A., Mar 2013, In : Neuromuscular Disorders. 23, 3, p. 229-238 10 p.

Research output: Contribution to journalArticle

Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort

Catteruccia, M., Fattori, F., Codemo, V., Ruggiero, L., Maggi, L., Tasca, G., Fiorillo, C., Pane, M., Berardinelli, A., Verardo, M., Bragato, C., Mora, M., Morandi, L., Bruno, C., Santoro, L., Pegoraro, E., Mercuri, E., Bertini, E. & D'Amico, A., 2013, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: A case report

Martoni, E., Petrini, S., Trabanelli, C., Sabatelli, P., Urciuolo, A., Selvatici, R., D'Amico, A., Falzarano, S., Bertini, E., Bonaldo, P., Ferlini, A. & Gualandi, F., Jun 5 2013, In : BMC Medical Genetics. 14, 1, 59.

Research output: Contribution to journalArticle

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

Hedberg, C., Niceta, M., Fattori, F., Lindvall, B., Ciolfi, A., D'Amico, A., Tasca, G., Petrini, S., Tulinius, M., Tartaglia, M., Oldfors, A. & Bertini, E., 2014, In : Journal of Neurology. 261, 5, p. 870-876 7 p.

Research output: Contribution to journalArticle

Clinical and genetic characterization of Chanarin-Dorfman syndrome

Bruno, C., Bertini, E., Di Rocco, M., Cassandrini, D., Ruffa, G., De Toni, T., Seri, M., Spada, M., Li Volti, G., D'Amico, A., Trucco, F., Arca, M., Casali, C., Angelini, C., DiMauro, S. & Minetti, C., May 16 2008, In : Biochemical and Biophysical Research Communications. 369, 4, p. 1125-1128 4 p.

Research output: Contribution to journalArticle

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement

Dabaj, I., Carlier, R. Y., Gómez-Andrés, D., Neto, O. A., Bertini, E., D'amico, A., Fattori, F., PéRéon, Y., Castiglioni, C., Rodillo, E., Catteruccia, M., Guimarães, J. B., Oliveira, A. S. B., Reed, U. C., Mesrob, L., Lechner, D., Boland, A., Deleuze, J-F., Malfatti, E., Bonnemann, C. & 6 others, Laporte, J., Romero, N., Felter, A., Quijano-Roy, S., Moreno, C. A. M. & Zanoteli, E., Aug 2018, In : Muscle and Nerve. 58, 2, p. 224-234 11 p.

Research output: Contribution to journalArticle

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

Mihaylova, V., Müller, J. S., Vilchez, J. J., Salih, M. A., Kabiraj, M. M., D'Amico, A., Bertini, E., Wölfle, J., Schreiner, F., Kurlemann, G., Rasic, V. M., Siskova, D., Colomer, J., Herczegfalvi, A., Fabriciova, K., Weschke, B., Scola, R., Hoellen, F., Schara, U., Abicht, A. & 1 others, Lochmüller, H., Mar 2008, In : Brain. 131, 3, p. 747-759 13 p.

Research output: Contribution to journalArticle

Clinical factors as predictors of survival in spinal muscular atrophy type I

D'Amico, A., Cuttini, M., Ravà, L., Mercuri, E., Messina, S., Pane, M., Mastella, C., Chiarini-Testa, M. B., Brahe, C., Tiziano, D., Vita, G. & Bertini, E., Oct 2008, In : Paediatrics and Child Health. 18, SUPPL. 1

Research output: Contribution to journalArticle

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 1 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Congenital Muscular Dystrophies: A Brief Review

Bertini, E., D'Amico, A., Gualandi, F. & Petrini, S., Dec 2011, In : Seminars in Pediatric Neurology. 18, 4, p. 277-288 12 p.

Research output: Contribution to journalArticle

Congenital muscular dystrophies with cognitive impairment: A population study

Messina, S., Bruno, C., Moroni, I., Pegoraro, E., D'Amico, A., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D., Farina, L., Minetti, C., Moggio, M., Mongini, T., Mottarelli, E., Pane, M., Pantaleoni, C., Pichiecchio, A., Pini, A., Ricci, E., Saredi, S. & 10 others, Sframeli, M., Tortorella, G., Toscano, A., Trevisan, C. P., Uggetti, C., Vasco, G., Comi, G. P., Santorelli, F. M., Bertini, E. & Mercuri, E., Sep 7 2010, In : Neurology. 75, 10, p. 898-903 6 p.

Research output: Contribution to journalArticle

Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study

Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D'Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D., Laverda, A., Moggio, M., Morandi, L., Moroni, I., Pane, M., Pezzani, R., Pichiecchio, A., Pini, A. & 15 others, Minetti, C., Mongini, T., Mottarelli, E., Ricci, E., Ruggieri, A., Saredi, S., Scuderi, C., Tessa, A., Toscano, A., Tortorella, G., Trevisan, C. P., Uggetti, C., Vasco, G., Santorelli, F. M. & Bertini, E., May 26 2009, In : Neurology. 72, 21, p. 1802-1809 8 p.

Research output: Contribution to journalArticle

Congenital muscular dystrophy with defective α-dystroglycan, cerebellar hypoplasia, and epilepsy

Messina, S., Tortorella, G., Concolino, D., Spanò, M., D'Amico, A., Bruno, C., Santorelli, F. M., Mercuri, E. & Bertini, E., Nov 2009, In : Neurology. 73, 19, p. 1599-1601 3 p.

Research output: Contribution to journalArticle

Congenital myopathies

D'Amico, A. & Bertini, E., Jan 2008, In : Current Neurology and Neuroscience Reports. 8, 1, p. 73-79 7 p.

Research output: Contribution to journalArticle

Congenital myopathies: Clinical phenotypes and new diagnostic tools

Cassandrini, D., Trovato, R., Rubegni, A., Lenzi, S., Fiorillo, C., Baldacci, J., Minetti, C., Astrea, G., Bruno, C., Santorelli, F. M., Berardinelli, A., Bertini, E. S., Comi, G., D'Amico, A., Donati, M. A., Dotti, M. T., Fattori, F., Grandis, M., Maggi, L., Magri, F. & 25 others, Maioli, M. A., Malandrini, A., Mari, F., Massa, R., Mercuri, E., Merlini, L., Moggio, M., Mora, M., Morandi, L. O., Musumeci, O., Nigro, V., Pane, M., Pegoraro, E., Pennisi, E. M., Peverelli, L., Ricci, G., Rodolico, C., Ruggiero, L., Sacchini, M., Santoro, L., Savarese, M., Siciliano, G., Simonati, A., Tonin, P. & Toscano, A., 2017, In : Italian Journal of Pediatrics. 43, 1

Research output: Contribution to journalArticle

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

Giugliano, T., Savarese, M., Garofalo, A., Picillo, E., Fiorillo, C., D'Amico, A., Maggi, L., Ruggiero, L., Vercelli, L., Magri, F., Fattori, F., Torella, A., Ergoli, M., Rubegni, A., Fanin, M., Musumeci, O., Bleecker, J. D., Peverelli, L., Moggio, M., Mercuri, E. & 13 others, Toscano, A., Mora, M., Santoro, L., Mongini, T., Bertini, E., Bruno, C., Minetti, C., Comi, G. P., Santorelli, F. M., Angelini, C., Politano, L., Piluso, G. & Nigro, V., Oct 26 2018, In : Genes. 9, 11

Research output: Contribution to journalArticle

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

on behalf on the International DMD group, Aug 1 2019, In : PLoS One. 14, 7, p. e0220714

Research output: Contribution to journalArticle

Daily salbutamol in young patients with SMA type II

Pane, M., Staccioli, S., Messina, S., D'Amico, A., Pelliccioni, M., Mazzone, E. S., Cuttini, M., Alfieri, P., Battini, R., Main, M., Muntoni, F., Bertini, E., Villanova, M. & Mercuri, E., Jul 2008, In : Neuromuscular Disorders. 18, 7, p. 536-540 5 p.

Research output: Contribution to journalArticle